Linked Data
ClinVar Variation Id:
5732
ClinVar RCV Id:
RCV000006086
RCV000086317
RCV000656137
RCV000787577
RCV001052374
RCV001074882
RCV001250604
RCV001352991
RCV003447471
RCV003450615
RCV002496279
RCV004540990
dbSNP Id:
rs62635654
ExAC:
1:197396745 C / T
gnomAD v2:
1-197396745-C-T
gnomAD v3:
1-197427615-C-T
gnomAD v4:
1-197427615-C-T
COSMIC:
COSM280126
PubMed:
PMID:10508521
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427615C>T , CM000663.2:g.197427615C>T | GRCh38 |
| NC_000001.10:g.197396745C>T , CM000663.1:g.197396745C>T | GRCh37 |
| NC_000001.9:g.195663368C>T | NCBI36 |
| NG_008483.1:g.164338C>T | |
| NG_008483.2:g.231154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2290C>T MANE Select | ENSP00000356370.3:p.Arg764Cys | |
| ENST00000638467.1:c.2290C>T | ENSP00000491102.1:p.Arg764Cys | |
| ENST00000681519.1:c.1171C>T | ENSP00000505267.1:p.Arg391Cys | |
| ENST00000367397.1:c.433C>T | ENSP00000356367.1:p.Arg145Cys | |
| ENST00000367399.6:c.1954C>T | ENSP00000356369.2:p.Arg652Cys | |
| ENST00000367400.7:c.2290C>T | ENSP00000356370.3:p.Arg764Cys | |
| ENST00000480086.2:n.191C>T | ||
| ENST00000484075.5:c.2290C>T | ENSP00000433932.1:p.Arg764Cys | |
| ENST00000535699.5:c.2083C>T | ENSP00000438786.1:p.Arg695Cys | |
| ENST00000538660.5:c.2128+5659C>T | ENSP00000438091.1:n.2128+5659C>T | |
| NM_001193640.1:c.1954C>T | NP_001180569.1:p.Arg652Cys | |
| NM_001257965.1:c.2083C>T | NP_001244894.1:p.Arg695Cys | |
| NM_001257966.1:c.2128+5659C>T | NP_001244895.1:n.2128+5659C>T | |
| NM_201253.2:c.2290C>T | NP_957705.1:p.Arg764Cys | |
| NR_047563.1:n.2291C>T | ||
| NR_047564.1:n.2499C>T | ||
| XM_011509365.1:c.2290C>T | XP_011507667.1:p.Arg764Cys | |
| XM_011509366.1:c.2290C>T | XP_011507668.1:p.Arg764Cys | |
| XM_011509367.1:c.2290C>T | XP_011507669.1:p.Arg764Cys | |
| XM_011509368.1:c.1708C>T | XP_011507670.1:p.Arg570Cys | |
| XM_011509369.1:c.733C>T | XP_011507671.1:p.Arg245Cys | |
| XM_011509365.2:c.2290C>T | XP_011507667.1:p.Arg764Cys | |
| XM_011509369.2:c.733C>T | XP_011507671.1:p.Arg245Cys | |
| XM_017000851.1:c.1447C>T | XP_016856340.1:p.Arg483Cys | |
| XM_017000852.1:c.2290C>T | XP_016856341.1:p.Arg764Cys | |
| NM_201253.3:c.2290C>T MANE Select | NP_957705.1:p.Arg764Cys | |
| NM_001193640.2:c.1954C>T | NP_001180569.1:p.Arg652Cys | |
| NM_001257965.2:c.2083C>T | NP_001244894.1:p.Arg695Cys | |
| NR_047563.2:n.2243C>T | ||
| NR_047564.2:n.2451C>T | ||
| NM_001257966.2:c.2128+5659C>T | NP_001244895.1:n.2128+5659C>T |